Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S525fs

TSC1

1,786 papers

RefSeq Summary

This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin...

Pfam Domains

Hamartinaa 7–71UCSCHamartin protein
Hamartinaa 7–719UCSCHamartin protein

Gene Aliases

HGNC Name

TSC complex subunit 1

HGNC Alias Symbols

KIAA0243; LAM; hamartin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000368.5
p.S525fs
c.1573_1574fs
Surrounding Variants
1 paper
NM_000368.5
p.S524S
c.1572C>G
1 paper
NM_000368.5
p.S525insFs
c.1574dupG
1 paper
NM_000368.5
p.S526fs
c.1576_1577fs
1 paper
NM_000368.5
p.S526fs
c.1576_1577fs
1 paper
NM_000368.5
p.S526delFs
c.1577delG
2 papers
NM_000368.5
p.A523V
c.1568C>T
2 papers
NM_000368.5
p.A523P
c.1567G>C
1 paper
NM_000368.5
p.A522delFs
c.1566delT
1 paper
NM_000368.5
p.A522delFs
c.1565_1566delTG
3 papers
NM_000368.5
p.Q527fs
c.1579_1580fs
15 papers
NM_000368.5
p.Q527*
c.1579C>T
1 paper
NM_001162427.2
p.Q476E
c.1426C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."